Paroxysmal central nervous system disorders
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Demoted GLA from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:50 p.m. | Last Modified: 9 Sep 2019, 2:50 p.m.
Panel Version: 0.43
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease, 301500
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Fabry disease, 301500
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Lysosomal storage disorder
- Fabry disease
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Multiple monogenic benign skin tumours
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Cystic kidney disease
- Progressive cardiac conduction disease
- Mucopolysaccharideosis, Gaucher, Fabry
- Hyperammonaemia
- Fetal hydrops
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Familial cerebral small vessel disease
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: gla has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: gla has been classified as Red List (Low Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: GLA were changed from Fabry disease, to Fabry disease, 301500
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to GLA.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to GLA.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to GLA.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Fabry disease, for gene: GLA
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: GLA was added gene: GLA was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GLA were set to Fabry disease,